ClinVar Miner

List of variants reported as likely benign for Retinoblastoma by Mendelics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.2521-11G>A rs4151624 0.00570
NM_000321.3(RB1):c.2490-45A>G rs4151610 0.00540
NM_000321.3(RB1):c.380+10C>G rs187110786 0.00158
NM_000321.3(RB1):c.1129A>T (p.Thr377Ser) rs146897002 0.00080
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292 0.00029
NM_000321.3(RB1):c.113G>A (p.Gly38Asp) rs766529534 0.00016
NM_000321.3(RB1):c.1156A>G (p.Met386Val) rs564780653 0.00014
NM_001162498.3(LPAR6):c.819C>A (p.Tyr273Ter) rs749894411 0.00001
NM_000321.3(RB1):c.2521-4G>T rs902298592
NM_001162498.3(LPAR6):c.369_370del (p.Lys123fs) rs1177544722

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